Results 41 to 50 of about 1,226,810 (157)

Innervation of the anal canal revisited through micro‐CT imaging

open access: yesJournal of Anatomy, EarlyView.
This article demonstrates to utility of micro‐CT imaging for conduction micro‐CT experiments to explore the innervation of the pelvic area in human fetuses. It allows for the creation of intricate 3D models, which show that peripheral nerve crossings occur over the entire length of the rectum and hints towards development and sex related differences in
Daniël Docter   +9 more
wiley   +1 more source

Mutational analysis of androgen receptor gene in two families with androgen insensitivity

open access: yesIndian Journal of Endocrinology and Metabolism, 2017
Background: Androgen insensitivity syndrome (AIS) is a rare X-linked disorder due to mutations in the androgen receptor (AR) gene causing end-organ resistance to the androgenic hormone.
Radha Ramadevi Akella
doaj   +1 more source

46 XY, Female. Complete androgen insensitivity syndrome: a case report

open access: yesJournal of Education, Health and Sport, 2022
Introduction: Androgen insensitivity syndrome (AIS) is an inherited disorder of sexual development caused by mutations in the androgen receptor encoding gene.
Anna Grądzik   +4 more
doaj   +1 more source

Testicular Biopsies in Adolescent and Adult Andrological Patients: The EAA Clinical Guidelines

open access: yesAndrology, Volume 14, Issue 7, Page 1906-1928, October 2026.
ABSTRACT Background Histological evaluation of testicular tissue is central to the assessment of infertile men, particularly those at an increased risk of testicular germ cell tumors (TGCT). Traditionally, testicular biopsies have been used primarily for diagnostic purposes, such as the detection of germ cell neoplasia in situ (GCNIS). With advances in
Lise Aksglaede   +11 more
wiley   +1 more source

Evaluating the Term ‘Disorders of Sex Development’: A Multidisciplinary Debate

open access: yesSocial Medicine, 2018
In 2014, almost 10 years after the 2005 International Consensus Conference on Intersex in Chicago, one of the conference co-organisers, under the auspices of a number of international paediatric endocrinology societies, launched the Global DSD Update to ...
Natalie Delimata   +5 more
doaj  

Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta‐analysis

open access: yesActa Obstetricia et Gynecologica Scandinavica, Volume 105, Issue 10, Page 1950-1964, October 2026.
Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao   +5 more
wiley   +1 more source

Embryonal carcinoma in androgen insensitivity syndrome

open access: yesIndian Journal of Medical and Paediatric Oncology, 2011
Embryonal cell carcinoma is a rare clinical entity. We report a case of a 20-year-old patient who presented with lump lower abdomen for last two months with primary amenorrhea and poorly developed secondary sexual characteristics.
Debabrata Barmon   +3 more
doaj   +1 more source

Two cases of gonad retention in adolescent patients with complete androgen insensitivity syndrome (CAIS)

open access: yesJournal of Pediatric Surgery Case Reports, 2020
Bilateral gonadectomy was the historical recommendation for patients diagnosed with complete androgen insensitivity syndrome (CAIS) due to the perceived risk of malignancy in the gonads.
Samantha M. Nemivant   +2 more
doaj   +1 more source

Deciphering the Medicinal Chemistry Aspects of Akt Inhibitors for the Management of Cancer: Structure–Activity Relationship Frameworks, Landscapes, and Optimization Approaches

open access: yesChemistry &Biodiversity, Volume 23, Issue 9, September 2026.
This review majorly describes the systematic development of Akt inhibitors involving numerous heterocyclic scaffolds along with their structure activity relationships to explore anticancer therapeutic strategies. ABSTRACT The Akt pathway is dysregulated in cancer, leading to proliferation, decreased apoptosis, and metastasis, and hence is a major ...
Mayur S. Dhangar, Mahesh B. Palkar
wiley   +1 more source

Differences in sex development among individuals with a female phenotype and an absent uterus: Diagnostic approach

open access: yesJournal of International Medical Research
Objective To describe individuals with differences in sex development presenting with a female phenotype and an absent uterus and identify specific diagnostic characteristics that improve diagnostic accuracy and optimize patient care.
Ana Jibladze   +3 more
doaj   +1 more source

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